I94V (p.Ile94Val) variant of SF3B1 (Splicing factor 3B subunit 1)
I94V (p.Ile94Val) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I94V (p.Ile94Val) variant details
- p.Ile94Val
- ExAC rs757970228
- gnomAD rs757970228
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.21
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available